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Biochem Flashcards

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1
Q

GAGs are required in purine synthesis

A

Glycine

Aspartate

Glutamine

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2
Q

Leflunomide inhibits

A

Dihydroorotate dehydrogenase in Pyrimidine De novo synthesis

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3
Q

Dihydroorotate dehydrogenase converts

A

Carbamoyl phosphate to Orotic acid

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4
Q

Mycophenolate inhibits

A

IMP dehydrogenase in purine synthesis

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5
Q

Ribavirin inhibits

A

IMP dehydrogenase in purine synthesis

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6
Q

Hydroxyurea inhibits

A

Ribonucleotide reductase in Pyrimidine synthesis

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7
Q

Ribonucleotide reductase converts

A

UDP to dUDP

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8
Q

HGPRT converts

A

Hypoxanthine to IMP and Guanine to GMP in Purine Salvage

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9
Q

Lesch-Nyhan syndrome is

A

X-linked recessive absence of HGPRT

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10
Q

Treatment of Lesch-Nyhan

A

Allopurinol or Febuxostat

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11
Q

Fluoroquinolones inhibit

A

DNA gyrase (prokaryotic topoisomerase 2)

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12
Q

Nucleotide excision repair

A

Specific endonucleases release the oligonucleotide containing damaged bases

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13
Q

What is defective in Xeroderma pigmentosum

A

AR nucleotide exicision repair

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14
Q

What is defective in HNPCC

A

Mismatch repair

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15
Q

What is mutated in ataxia telangiectasia

A

Nonhomologous end joining

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16
Q

RER is the site of

A

Synthesis of secretory proteins and of N-linked oligosaccharide addition to many proteins

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17
Q

SER is site of

A

Steroid synthesis and detoxification of drugs and poisons

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18
Q

Golgi is

A

Distribution center for proteins and lipids from the ER to vesicles and plamsa membrane

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19
Q

What occures in Golgi

A
  1. Modifies N-oligosacchardes on aspargine
  2. Adds O-oligosacchardes on serine and threonine
  3. Adds mannose-6-phosphate to proteins
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20
Q

I-cell disease is

A

Defect in phosphotransferase leading to failure of Golgi to phosphorylate mannose residues

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21
Q

I-cell disease clinical

A
  1. Coarse face
  2. Clouded corneas
  3. Restricted joint movement
  4. High plasma levels of lysosomal enzymes
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22
Q

COP1 move proteins from

A

Golgi to ER

Golgi to Golgi (retrograde)

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23
Q

COP2 moves proteins from

A

ER to Golgi

Golgi to Golgi (anterograde)

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24
Q

Microtubules Get Constructed Very Poorly are druges that act on Microtubules

A
  1. Mebendazole (anti-helminthic)
  2. Griseofluvin (anti-fungal)
  3. Colchicine (anti-gout)
  4. Vincristine/Vinblastin (anti-cancer)
  5. Paclitaxel (anti-cancer)
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25
Collagen is 1/3
Glycine
26
Osteogenesis imperfecta is prolbems
forming triple helix of collagen in glycosylation in RER
27
Osteogeneisis imperfecta genetics
AD
28
Skin and joint symptoms of Ehlers-Danlos is due to mutation in
Collagen type 5
29
Menkes diseases is due to
Impaired Cu absorption and transport
30
ELISA is used to detect
Antigen (**direct**) Antibody (**indirect**)
31
Pleiotropy means
One gene contributes to multiple phenotypic effects such as PKU
32
Loss of heterozygosity is also known as
Two-hit hypothesis
33
Mosaicism is
Presence of genetically distinct cell lines in the same individual due to mitotic errors after fertilization
34
Example of Locus heterogeneity
Albinism, Marfan, Homocystine
35
Example of Allelic heterogeneity
β-thalassemia
36
Heterodisomy indicates
A meiosis 1 error leading to Uniparental disomy
37
Isodisomy indicates
Meiosis 2 error leading to uniparental disomy
38
FAP genetics
AD mutaiton in APC (**chro 5**)
39
Familial hypercholesterolemia genetics
AD defective or absent LDL receptor
40
Hereditary hemorrhagic telangiectasia also known as
Osler-Weber-Rendu syndrome
41
Hereditary hemorrhagic telangiectasia genetics
AD disorder of blood vessels
42
Hereditary spherocytosis genetics
AD spectrin or ankyrin defect
43
Huntington disease genetics
AD CAG repeat on chro 4
44
Marfan syndrome genetics
AD fibrillin-1 gene mutation
45
MEN genetics
AD mutation in Ret
46
Tuberous sclerosis genetics
AD neurocutaneous disorder
47
VHL disease genetics
AD VHL gene deletion on chro 3
48
CF genetics
AR defect in CFTR on Chro 7
49
AR diseases (12)
1. Albinism 2. ARPKD 3. CF 4. Glycogen storage diseases 5. Hemochromatosis 6. Kartagener 7. Mucopolysaccharidoses 8. PKU 9. Sickle cell 10. Sphingolipidoses 11. Thalassemia 12. Wilson
50
**B**e **W**ise, **F**ool's **GOLD** **H**eeds **S**illy **HO**pe are x-linked recessive disorders
1. **B**ruton agammaglobulinemia 2. **W**iskott-Aldrich 3. **F**abry 4. **G**6PD 5. **O**cular albinism 6. **L**esch-Nyhan 7. **D**uchenne 8. **H**unter **S**yndrome 9. **H**emophilia A and B 10. **O**rnithine transcarbamylase deficiency
51
Duchenne genetics
X-linked recessive frameshift mutation of dystrophin
52
Becker genetics
X-linked recessive point mutation of dystrophin gene
53
Myotonic dystrophy genetics
X-linked recessive CTG repeat in DMPK gene
54
Myotonic dystrophy clinical
1. Myotonia 2. Muscle wasting 3. Frontal balding 4. Cataracts 5. Testicular atrophy 6. Arrhythmia
55
Fragile X syndrome repeat
CGG
56
Friedreich ataxia repeat
GAA
57
Huntington repeat
CAG
58
Myotonic repeat
CTG
59
Williams syndrome due to
Congenital microdeletion of long arm of chro 7
60
Williams syndrome clinical
1. Elfin face 2. Intellecual disability 3. Hypercalcemia 4. Extreme friendliness with strangers 5. CVS problems
61
B1 is
Thiamine
62
B2 is
Riboflavin
63
B3 is
Niacin
64
B5 is
Pantothenic acid: CoA
65
B6 is
Pyridoxine
66
B7 is
Biotin
67
B9 is
Folate
68
B12 is
Cobalamin
69
Thiamine (B1) is required for
**ATP** **α**-ketoglutarate **T**ransketolase **P**yruvate dehydrogenase
70
3 D's of B3
Diarrhea Dementia Dermatitis
71
Kwashiorkor **MEAL**
* **M**alnutrition (low protein) * **E**dema * **A**nemia * **L**iver damage (fatty liver) * Skin lesions and hair loss
72
Action of Kinase
Uses ATP to add high-energy phosphate group
73
Action of Phosphorylase
Adds inorganic phosphate without using ATP
74
Action of Phosphatase
Removes phosphate group
75
Action of Dehydrogenase
Catalyzes oxidation-reduction reaction
76
Action of Hydroxylase
Adds -OH
77
Action of Carboxylase
Transfers CO2 with help of **biotin**
78
NADPH used in
1. Anabolic processes 2. Respiratory burst 3. Cytochrome P-450 system 4. Glutathione reductase
79
TLC for Nancy needed for what enzymes
Pyruvate dehydrogenase α-ketoglutarate
80
What is seen in G6PD Deficiency
1. **Heinz** **bodies**: Oxidized Hemoglobin 2. **Bite** **cells**: phagocytic removal of heinz bodies
81
Essential fructosuria genetics
AR defect in Fructokinase
82
Fructose intolerance genetics
AR deficiency in aldolase B
83
Galactokinase deficiency genetics
AR deficiency of Glacotokinase
84
Classic galactosemia genetics
AR absence of glactose-1-phophate uridyltransferase
85
**P**ri**V**a**T**e **TIM** **HALL** are essential AA
1. **P**henylalanine 2. **V**aline 3. **T**ryptophan 4. **T**hreonine 5. **I**isolucine 6. **M**ethionine 7. **H**istidine 8. **A**lanine 9. **L**eucine 10. **L**ysine
86
PKU is due to
Decrease Phenylalanine hydroxylase or Decrease Tetrahydrobiopterin cofactor
87
PKU clinical
1. Mental retardation 2. Growth retardation 3. Seizures 4. Fair skin 5. Eczema 6. Musty body odor
88
Alkaptonuria is
AR deficiency of homogentisate oxidase
89
Different types of Homocystinuria
1. Cystathionine synthase deficiency 2. B6 deficiency 3. Homocysteine methyltransferase deficiency
90
Homocystinuria clinical
1. Mental retardation 2. Osteoporosis 3. Tall stature 4. Kyphosis 5. Lens subluxation 6. Thrombosis 7. Atherosclerosis
91
Von Gierke disease is
AR deficiency in Glucose-6-phosphatase leading to Glycogen storage disease
92
Pompe disease is
AR deficiency in Lysosomal α-1,4-glucosidase leading to Glycogen storage disease that damages the heart
93
Cori disease is
AR deficiency in Debranching enzyme leading to Glycogen storage disease
94
McArdle disease is
AR deficiency in skeletal muscle glycogen phosphorylase
95
Fabry disease is
X-linked recessive deficiency in α-galactosidase A leading to lysosomal storage disease
96
What accumulates in Fabry disease
Ceramide trihexoside
97
Fabry clinical
Peripheral neuropathy of hands/feet Angiokeratoma CVS and renal
98
Gaugher is
AR deficiency in Glucocerebrosidase causing lysosomal storage disease
99
What accumulates in Gaucher
Glucocerebroside
100
Gaucher clinical
1. Hepatosplenomegaly 2. Pancytopenia 3. Aseptic necrosis of femur 4. Bone crisis
101
Niemann-Pick is
AR deficiency in Sphingomyelinase leading to Lysosomal storage disease
102
What accumulates in Niemann-Pick
Sphingomyelin
103
Niemann-Pick clinical
1. Neurodegeneration 2. Hepatosplenomegaly 3. Cherry-red spot on macula 4. Foam cells
104
Tay-Sachs is
AR deficiency of Hexosaminidase A leading to lysosomal storage disease
105
What accumulates in Tay-Sachs
GM2 ganglioside
106
Tay-Sach clinical
Same as Niemann-Pick without hepatosplenomegaly
107
Krabbe disease is
AR deficiency in Glactocerebrosidase leading to lysosomal storage disease
108
What accumulates in Krabbe
Galactocerebroside Psychosine
109
Hurler syndrome is
AR deficiency in α-L-iduronidase leading to lysosomal storage disease
110
What is accumulated in Hurler
Heparan sulfate Dermatan sulfate
111
What maintains blood glucose levels after 1-3 days of starvation
1. Hepatic glycogenolysis 2. Adipose release of FFA 3. Muslce and liver shift fuel use from glucose to FFA
112
Type 1 Hyper-chylomicronemia is
AR lipoprotein lipase deficiency or altered apo-C2
113
What is increased in Type 1 Hyper-chylomicronemia
1. Chylomicrons 2. TG 3. Cholesterol
114
Type 1 Hyper-Chylomicronemia clinical
1. Pancreatitis 2. Hepatosplenomegaly 3. Eruptive/pruritic xanthomas
115
2a Familial Hyper-Cholesterolemia is
AD absent or defective LDL receptors
116
4 Hyper-Triglyceridemia is
AD hepatic overproduction of VLDL causing pancreatitis

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